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Aliases for SLC26A3 Gene

Aliases for SLC26A3 Gene

  • Solute Carrier Family 26 Member 3 2 3 4 5
  • Solute Carrier Family 26 (Anion Exchanger), Member 3 2 3
  • DRA 3 4
  • Solute Carrier Family 26, Member 3 2
  • Down-Regulated In Adenoma Protein 3
  • Congenital Chloride Diarrhea 2
  • Down-Regulated In Adenoma 4
  • Chloride Anion Exchanger 3
  • Protein DRA 4
  • CLD 3

External Ids for SLC26A3 Gene

Previous HGNC Symbols for SLC26A3 Gene

  • DRA
  • CLD

Previous GeneCards Identifiers for SLC26A3 Gene

  • GC07M105889
  • GC07M106952
  • GC07M106966
  • GC07M106951
  • GC07M106999
  • GC07M107193
  • GC07M107405
  • GC07M101768

Summaries for SLC26A3 Gene

Entrez Gene Summary for SLC26A3 Gene

  • The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]

GeneCards Summary for SLC26A3 Gene

SLC26A3 (Solute Carrier Family 26 Member 3) is a Protein Coding gene. Diseases associated with SLC26A3 include Diarrhea 1, Secretory Chloride, Congenital and Diarrhea. Among its related pathways are Pancreatic secretion and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription cofactor activity. An important paralog of this gene is SLC26A4.

UniProtKB/Swiss-Prot for SLC26A3 Gene

  • Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Gene Wiki entry for SLC26A3 Gene

Additional gene information for SLC26A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A3 Gene

Genomics for SLC26A3 Gene

GeneHancer (GH) Regulatory Elements for SLC26A3 Gene

Promoters and enhancers for SLC26A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I107799 Promoter/Enhancer 1 EPDnew ENCODE 550.8 +1.6 1566 5.2 TFAP4 SAP130 TEAD1 BCL6B HNF4A YY1 SLC26A3 LOC101927974
GH07I107794 Promoter 0.5 EPDnew 550.4 +8.6 8614 0.1 SLC26A3 LOC101927974
GH07I107835 Enhancer 1.2 FANTOM5 ENCODE 25.2 -33.6 -33628 1.8 PKNOX1 SMAD1 ARNT FEZF1 ZNF766 CBX5 E2F8 FOS REST MEF2D SLC26A3 CBLL1 ENSG00000272072 LAMB1 PIGCP2 ENSG00000273055 RPL7P32 COG5 LOC105375444 GC07M107805
GH07I107778 Enhancer 0.9 ENCODE 12.1 +23.5 23452 1.8 FOXA2 MLX ARID4B DMAP1 ETS1 TCF12 RXRA SP5 MXD4 MIER2 SLC26A3 PIGCP2 LOC101927974
GH07I107945 Enhancer 1.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 5.7 -146.6 -146626 9.5 PKNOX1 FOXA2 NEUROD1 SIN3A YY1 FOS PPARG NFIL3 MAFF RCOR2 GC07M107948 LAMB4 ENSG00000273055 DLD CBLL1 SLC26A3 GC07M107805 LAMB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC26A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC26A3 gene promoter:

Genomic Locations for SLC26A3 Gene

Genomic Locations for SLC26A3 Gene
chr7:107,765,467-107,803,233
(GRCh38/hg38)
Size:
37,767 bases
Orientation:
Minus strand
chr7:107,405,912-107,443,678
(GRCh37/hg19)

Genomic View for SLC26A3 Gene

Genes around SLC26A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A3 Gene

Proteins for SLC26A3 Gene

  • Protein details for SLC26A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40879-S26A3_HUMAN
    Recommended name:
    Chloride anion exchanger
    Protein Accession:
    P40879

    Protein attributes for SLC26A3 Gene

    Size:
    764 amino acids
    Molecular mass:
    84505 Da
    Quaternary structure:
    • Interacts with CFTR, SLC26A6 and SLC9A3R1 (By similarity). Interacts with PDZK1.

neXtProt entry for SLC26A3 Gene

Post-translational modifications for SLC26A3 Gene

  • N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation.
  • Glycosylation at isoforms=153, isoforms=161, and posLast=165165
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC26A3 Gene

No data available for DME Specific Peptides for SLC26A3 Gene

Domains & Families for SLC26A3 Gene

Gene Families for SLC26A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC26A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P40879

UniProtKB/Swiss-Prot:

S26A3_HUMAN :
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A3: view

Function for SLC26A3 Gene

Molecular function for SLC26A3 Gene

GENATLAS Biochemistry:
solute carrier family 26,member A3,sulfate transporter,Na+/sulfate cotransporter DIDs resistant from high endothelial venules,restrictively expressed,with hyperexpression in placenta,also expressed in transits
UniProtKB/Swiss-Prot Function:
Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Phenotypes From GWAS Catalog for SLC26A3 Gene

Gene Ontology (GO) - Molecular Function for SLC26A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity TAS 7683425
GO:0003712 transcription cofactor activity TAS 7683425
GO:0005215 transporter activity TAS 8896562
GO:0005254 chloride channel activity IBA --
GO:0005452 inorganic anion exchanger activity TAS --
genes like me logo Genes that share ontologies with SLC26A3: view
genes like me logo Genes that share phenotypes with SLC26A3: view

Human Phenotype Ontology for SLC26A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC26A3 Gene

MGI Knock Outs for SLC26A3:

miRNA for SLC26A3 Gene

miRTarBase miRNAs that target SLC26A3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC26A3 Gene

Localization for SLC26A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A3 Gene

Apical cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC26A3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC26A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IEA --
GO:0016020 membrane IEA,ISS --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC26A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC26A3 Gene

Pathways & Interactions for SLC26A3 Gene

genes like me logo Genes that share pathways with SLC26A3: view

Gene Ontology (GO) - Biological Process for SLC26A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006820 anion transport TAS 9554749
GO:0006821 chloride transport IEA --
genes like me logo Genes that share ontologies with SLC26A3: view

No data available for SIGNOR curated interactions for SLC26A3 Gene

Drugs & Compounds for SLC26A3 Gene

(6) Additional Compounds for SLC26A3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
genes like me logo Genes that share compounds with SLC26A3: view

Transcripts for SLC26A3 Gene

Unigene Clusters for SLC26A3 Gene

Solute carrier family 26, member 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2: -

Relevant External Links for SLC26A3 Gene

GeneLoc Exon Structure for
SLC26A3
ECgene alternative splicing isoforms for
SLC26A3

Expression for SLC26A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC26A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC26A3 Gene

This gene is overexpressed in Colon - Transverse (x46.5).

Protein differential expression in normal tissues from HIPED for SLC26A3 Gene

This gene is overexpressed in Rectum (33.8), Colon (24.5), and Islet of Langerhans (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC26A3 Gene



Protein tissue co-expression partners for SLC26A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC26A3 Gene:

SLC26A3

SOURCE GeneReport for Unigene cluster for SLC26A3 Gene:

Hs.1650

Evidence on tissue expression from TISSUES for SLC26A3 Gene

  • Intestine(4.9)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC26A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • placenta
  • rectum
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SLC26A3: view

No data available for mRNA Expression by UniProt/SwissProt for SLC26A3 Gene

Orthologs for SLC26A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC26A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC26A3 33 34
  • 98.51 (n)
cow
(Bos Taurus)
Mammalia SLC26A3 33 34
  • 85.2 (n)
mouse
(Mus musculus)
Mammalia Slc26a3 33 16 34
  • 82.25 (n)
dog
(Canis familiaris)
Mammalia SLC26A3 33 34
  • 82.21 (n)
rat
(Rattus norvegicus)
Mammalia Slc26a3 33
  • 81.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC26A3 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A3 33 34
  • 66.58 (n)
lizard
(Anolis carolinensis)
Reptilia SLC26A3 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731072 33
  • 66.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24628 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-31f5.1 33
  • 60.84 (n)
SLC26A3 (1 of 2) 34
  • 55 (a)
OneToMany
slc26a3 34
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sulp-6 33
  • 45.81 (n)
W04G3.6 35
  • 35 (a)
ZK287.2 35
  • 33 (a)
W01B11.2 35
  • 32 (a)
F14D12.5 35
  • 31 (a)
K12G11.2 35
  • 30 (a)
K12G11.1 35
  • 29 (a)
Species where no ortholog for SLC26A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A3 Gene

ENSEMBL:
Gene Tree for SLC26A3 (if available)
TreeFam:
Gene Tree for SLC26A3 (if available)

Paralogs for SLC26A3 Gene

genes like me logo Genes that share paralogs with SLC26A3: view

Variants for SLC26A3 Gene

Sequence variations from dbSNP and Humsavar for SLC26A3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10280704 likely-benign, Congenital secretory diarrhea, chloride type 107,793,810(-) C/T coding_sequence_variant, missense_variant
rs116793431 likely-benign, Congenital secretory diarrhea, chloride type 107,793,772(-) T/C coding_sequence_variant, missense_variant
rs121913030 pathogenic, Congenital secretory diarrhea, chloride type, Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] 107,791,841(-) T/A coding_sequence_variant, missense_variant
rs121913031 conflicting-interpretations-of-pathogenicity, Congenital secretory diarrhea, chloride type 107,772,090(-) TGAT/TGATGAT coding_sequence_variant, inframe_insertion
rs121913032 pathogenic, Congenital secretory diarrhea, chloride type, not provided 107,791,059(-) C/A coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for SLC26A3 Gene

Variant ID Type Subtype PubMed ID
esv1189776 CNV deletion 17803354
esv2556506 CNV deletion 19546169
esv2734989 CNV deletion 23290073
esv2734990 CNV deletion 23290073
esv2734991 CNV deletion 23290073
esv3614464 CNV loss 21293372
esv5282 CNV loss 18987735
nsv1151005 CNV deletion 26484159
nsv5893 CNV insertion 18451855
nsv958447 CNV deletion 24416366

Variation tolerance for SLC26A3 Gene

Residual Variation Intolerance Score: 34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC26A3 Gene

Human Gene Mutation Database (HGMD)
SLC26A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC26A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A3 Gene

Disorders for SLC26A3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SLC26A3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 1, secretory chloride, congenital
  • diar1
diarrhea
  • diarrhea of presumed infectious origin
congenital chloride diarrhea
  • diarrhea 1, secretory chloride, congenital
spermatocele
diastrophic dysplasia
  • dtd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A3_HUMAN
  • Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]: A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature. {ECO:0000269 PubMed:11524734, ECO:0000269 PubMed:19861545, ECO:0000269 PubMed:21150650, ECO:0000269 PubMed:21394828, ECO:0000269 PubMed:22779076, ECO:0000269 PubMed:23274434, ECO:0000269 PubMed:27657883, ECO:0000269 PubMed:8896562, ECO:0000269 PubMed:9554749, ECO:0000269 PubMed:9718329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC26A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC26A3: view

No data available for Genatlas for SLC26A3 Gene

Publications for SLC26A3 Gene

  1. Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (PMID: 11524734) Höglund P … Kere J (Human mutation 2001) 3 4 22 58
  2. Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (PMID: 23274434) Hong J … Seo JW (European journal of pediatrics 2013) 3 4 58
  3. Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3. (PMID: 22159084) Hayashi H … Yamashita Y (American journal of physiology. Cell physiology 2012) 3 4 58
  4. Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (PMID: 21150650) Rodríguez-Herrera A … Gutiérrez G (Journal of pediatric gastroenterology and nutrition 2011) 3 4 58
  5. Update on SLC26A3 mutations in congenital chloride diarrhea. (PMID: 21394828) Wedenoja S … Kere J (Human mutation 2011) 3 4 58

Products for SLC26A3 Gene

Sources for SLC26A3 Gene

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